Maria I New1. 1. Adrenal Steroid Disorders Program, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. maria.new@mssm.edu
Abstract
CONTEXT: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews, in whom one in 27 express the disease. NC21OHD is underdiagnosed in both male and female patients with hyperandrogenic symptoms because hormonal abnormalities in NC21OHD are only mild to moderate, not severe as in the classical form of CAH. Unlike classical CAH, NC21OHD is not associated with ambiguous genitalia of the newborn female. MAIN OUTCOME MEASURES: The hyperandrogenic symptoms include advanced bone age, early pubic hair, precocious puberty, tall stature, and early arrest of growth in children; infertility, cystic acne, and short stature in both adult males and females; hirsutism, frontal balding, polycystic ovaries, and irregular menstrual periods in females; and testicular adrenal rest tissue in males. CONCLUSIONS: The signs and symptoms of hyperandrogenism are reversed with dexamethasone treatment.
CONTEXT: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews, in whom one in 27 express the disease. NC21OHD is underdiagnosed in both male and female patients with hyperandrogenic symptoms because hormonal abnormalities in NC21OHD are only mild to moderate, not severe as in the classical form of CAH. Unlike classical CAH, NC21OHD is not associated with ambiguous genitalia of the newborn female. MAIN OUTCOME MEASURES: The hyperandrogenic symptoms include advanced bone age, early pubic hair, precocious puberty, tall stature, and early arrest of growth in children; infertility, cystic acne, and short stature in both adult males and females; hirsutism, frontal balding, polycystic ovaries, and irregular menstrual periods in females; and testicular adrenal rest tissue in males. CONCLUSIONS: The signs and symptoms of hyperandrogenism are reversed with dexamethasone treatment.
Authors: F A Costa-Barbosa; V M Carvalho; O H Nakamura; T A S S Bachega; J G H Vieira; C E Kater Journal: J Endocrinol Invest Date: 2010-10-04 Impact factor: 4.256
Authors: Bahareh Rabbani; Nejat Mahdieh; Mohammad Tahgi Haghi Ashtiani; Bagher Larijani; Mohammad Taghi Akbari; Maria New; Alan Parsa; Jan P Schouten; Ali Rabbani Journal: Genet Test Mol Biomarkers Date: 2011-10-21
Authors: E Napolitano; C Manieri; F Restivo; E Composto; F Lanfranco; M Repici; B Pasini; S Einaudi; E Menegatti Journal: J Endocrinol Invest Date: 2010-07-29 Impact factor: 4.256
Authors: Ozge Ceyhan-Birsoy; Jaclyn B Murry; Kalotina Machini; Matthew S Lebo; Timothy W Yu; Shawn Fayer; Casie A Genetti; Talia S Schwartz; Pankaj B Agrawal; Richard B Parad; Ingrid A Holm; Amy L McGuire; Robert C Green; Heidi L Rehm; Alan H Beggs Journal: Am J Hum Genet Date: 2019-01-03 Impact factor: 11.025